MCID: IMM104
MIFTS: 46

Immunodeficiency with Hyper-Igm, Type 2

Categories: Genetic diseases, Rare diseases, Blood diseases, Immune diseases

Aliases & Classifications for Immunodeficiency with Hyper-Igm, Type 2

MalaCards integrated aliases for Immunodeficiency with Hyper-Igm, Type 2:

Name: Immunodeficiency with Hyper-Igm, Type 2 57 13
Higm2 57 12 53 59 75 55
Immunodeficiency with Hyper Igm Type 2 53 29 6
Activation-Induced Cytidine Deaminase Deficiency 12 59
Immunodeficiency with Hyper-Igm Type 2 12 15
Hyper-Igm Syndrome Type 2 12 59
Hyper-Igm Syndrome 2 57 75
Aid Deficiency 12 59
Hyper-Igm Immunodeficiency Syndrome, Type 2 73
Immunodeficiency, with Hyper Igm, Type 2 40
Activation-Induced Cytidine Deaminase 13
Immunodeficiency with Hyper-Igm 2 75
Hyper-Igm Immunodeficiency Type 2 75
Hyper Igm Syndrome 2 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
recurrent bacterial infections
no opportunistic infections


HPO:

32
immunodeficiency with hyper-igm, type 2:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 605258
Disease Ontology 12 DOID:0060758
ICD10 33 D80.5
Orphanet 59 ORPHA101089
UMLS via Orphanet 74 C1720956
ICD10 via Orphanet 34 D80.5
MedGen 42 C1720956
MeSH 44 D053306
UMLS 73 C1720956

Summaries for Immunodeficiency with Hyper-Igm, Type 2

OMIM : 57 Hyper-IgM syndrome type 2 (HIGM2) is a rare immunodeficiency characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections. For a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (308230). (605258)

MalaCards based summary : Immunodeficiency with Hyper-Igm, Type 2, also known as higm2, is related to leukemia, chronic lymphocytic and immunodeficiency with hyper-igm, type 1. An important gene associated with Immunodeficiency with Hyper-Igm, Type 2 is AICDA (Activation Induced Cytidine Deaminase), and among its related pathways/superpathways are PAK Pathway and Allograft rejection. Affiliated tissues include lymph node and b cells, and related phenotypes are immunodeficiency and lymphadenopathy

Disease Ontology : 12 A hyperimmunoglobulin syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has material basis in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13.

UniProtKB/Swiss-Prot : 75 Immunodeficiency with hyper-IgM 2: A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections.

Related Diseases for Immunodeficiency with Hyper-Igm, Type 2

Diseases related to Immunodeficiency with Hyper-Igm, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 94)
# Related Disease Score Top Affiliating Genes
1 leukemia, chronic lymphocytic 30.1 AICDA BCL6 CD40 CD40LG TNFSF13B
2 immunodeficiency with hyper-igm, type 1 30.0 AICDA CD40 CD40LG CD79A UNG
3 selective igg deficiency disease 11.0 CD40LG CD79A
4 c1q nephropathy 11.0 CD40LG CD79A
5 meningovascular neurosyphilis 11.0 CD40LG CD79A
6 alpha chain disease 11.0 CD40LG CD79A
7 brill-zinsser disease 11.0 CD40LG CD79A
8 exudative glomerulonephritis 11.0 CD40LG CD79A
9 cork-handlers' disease 11.0 CD40LG CD79A
10 salpingo-oophoritis 10.9 CD40LG CD79A
11 early yaws 10.9 CD40LG CD79A
12 ventilation pneumonitis 10.9 CD40LG CD79A
13 chronic interstitial cystitis 10.9 CD40LG CD79A
14 axillary adenitis 10.9 CD40LG CD79A
15 cryofibrinogenemia 10.9 CD40LG CD79A
16 trichostrongyloidiasis 10.9 CD40LG CD79A
17 subacute bacterial endocarditis 10.9 CD40LG CD79A
18 congenital rubella 10.9 CD40LG UNG
19 heterophyiasis 10.9 CD40LG CD79A
20 immunoglobulin g deficiency 10.9 CD40LG CD79A
21 orbital granuloma 10.9 CD40LG CD79A
22 transient hypogammaglobulinemia of infancy 10.9 CD40LG CD79A
23 hyperglobulinemic purpura 10.9 CD40LG CD79A
24 gastroduodenitis 10.9 CD40LG CD79A
25 bacterial conjunctivitis 10.9 CD40LG CD79A
26 heavy chain disease 10.9 CD40LG CD79A
27 ophthalmia neonatorum 10.9 CD40LG CD79A
28 immunoglobulin a deficiency 1 10.9 CD40LG CD79A
29 parotid disease 10.9 CD40LG CD79A
30 cerebral arteritis 10.9 CD40LG CD79A
31 selective immunoglobulin deficiency disease 10.9 CD40LG CD79A
32 light fixation seizure syndrome 10.8 CD40 CD40LG
33 geniculate herpes zoster 10.8 CD40LG CD79A
34 erythema elevatum diutinum 10.8 CD40LG CD79A
35 sporotrichosis 10.8 CD40LG CD79A
36 fallopian tube disease 10.8 CD40LG CD79A
37 congenital syphilis 10.8 CD40LG CD79A
38 monoclonal paraproteinemia 10.8 CD40LG CD79A
39 salpingitis 10.8 CD40LG CD79A
40 ocular toxoplasmosis 10.8 CD40LG CD79A
41 dysgammaglobulinemia 10.8 CD40LG CD79A
42 congenital hypogammaglobulinemia 10.8 CD40LG CD79A
43 acute maxillary sinusitis 10.8 CD40LG CD79A
44 chronic polyneuropathy 10.7 CD40LG CD79A
45 spinocerebellar ataxia, autosomal recessive 10 10.7 CD40LG CD79A
46 parasitic ichthyosporea infectious disease 10.7 CD40LG CD79A
47 human immunodeficiency virus infectious disease 10.7 APOBEC3G CD40LG CD79A
48 rhinosporidiosis 10.7 CD40LG CD79A
49 secondary syphilis 10.7 CD40LG CD79A
50 yellow nail syndrome 10.6 CD40LG CD79A

Graphical network of the top 20 diseases related to Immunodeficiency with Hyper-Igm, Type 2:



Diseases related to Immunodeficiency with Hyper-Igm, Type 2

Symptoms & Phenotypes for Immunodeficiency with Hyper-Igm, Type 2

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
recurrent upper and lower respiratory tract infections

Immunology:
low-absent igg, iga
normal-elevated igm
impaired ig class switch recombination (csr)
lymph node hyperplasia
giant germinal centers in lymph nodes
more
Abdomen Gastrointestinal:
recurrent gastrointestinal infections


Clinical features from OMIM:

605258

Human phenotypes related to Immunodeficiency with Hyper-Igm, Type 2:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 32 HP:0002721
2 lymphadenopathy 32 HP:0002716
3 recurrent bacterial infections 32 HP:0002718
4 iga deficiency 32 HP:0002720
5 igg deficiency 32 HP:0004315
6 recurrent infection of the gastrointestinal tract 32 HP:0004798
7 recurrent upper and lower respiratory tract infections 32 HP:0200117
8 impaired ig class switch recombination 32 HP:0002959

MGI Mouse Phenotypes related to Immunodeficiency with Hyper-Igm, Type 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.93 AICDA BCL6 CD276 CD40 CD40LG CD79A
2 immune system MP:0005387 9.73 AICDA BCL6 CD276 CD40 CD40LG CD79A
3 normal MP:0002873 9.23 CD2 CD40 CD79A IKBKG UNG AICDA

Drugs & Therapeutics for Immunodeficiency with Hyper-Igm, Type 2

Search Clinical Trials , NIH Clinical Center for Immunodeficiency with Hyper-Igm, Type 2

Genetic Tests for Immunodeficiency with Hyper-Igm, Type 2

Genetic tests related to Immunodeficiency with Hyper-Igm, Type 2:

# Genetic test Affiliating Genes
1 Immunodeficiency with Hyper Igm Type 2 29 AICDA

Anatomical Context for Immunodeficiency with Hyper-Igm, Type 2

MalaCards organs/tissues related to Immunodeficiency with Hyper-Igm, Type 2:

41
Lymph Node, B Cells

Publications for Immunodeficiency with Hyper-Igm, Type 2

Articles related to Immunodeficiency with Hyper-Igm, Type 2:

# Title Authors Year
1
Coexistence of Two Rare Autosomal Recessive Disorders: Activation-Induced Cytidine Deaminase Deficiency and Sjogren-Larsson Syndrome. ( 28471629 )
2016
2
Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency. ( 14962793 )
2004
3
The block in immunoglobulin class switch recombination caused by activation-induced cytidine deaminase deficiency occurs prior to the generation of DNA double strand breaks in switch mu region. ( 12928399 )
2003

Variations for Immunodeficiency with Hyper-Igm, Type 2

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency with Hyper-Igm, Type 2:

75
# Symbol AA change Variation ID SNP ID
1 AICDA p.Arg24Trp VAR_013774 rs104894324
2 AICDA p.Trp80Arg VAR_013775 rs104894320
3 AICDA p.Leu106Pro VAR_013776 rs104894321
4 AICDA p.Met139Val VAR_013777 rs104894322
5 AICDA p.Phe151Ser VAR_013778 rs104894327
6 AICDA p.Phe15Leu VAR_077563
7 AICDA p.Tyr31His VAR_077564
8 AICDA p.His130Pro VAR_077567

ClinVar genetic disease variations for Immunodeficiency with Hyper-Igm, Type 2:

6
(show all 42)
# Gene Variation Type Significance SNP ID Assembly Location
1 AICDA NM_020661.3(AICDA): c.70C> T (p.Arg24Trp) single nucleotide variant Pathogenic rs104894324 GRCh37 Chromosome 12, 8759547: 8759547
2 AICDA NM_020661.3(AICDA): c.70C> T (p.Arg24Trp) single nucleotide variant Pathogenic rs104894324 GRCh38 Chromosome 12, 8606951: 8606951
3 AICDA NM_020661.3(AICDA): c.203G> A (p.Trp68Ter) single nucleotide variant Pathogenic rs104894325 GRCh37 Chromosome 12, 8758035: 8758035
4 AICDA NM_020661.3(AICDA): c.203G> A (p.Trp68Ter) single nucleotide variant Pathogenic rs104894325 GRCh38 Chromosome 12, 8605439: 8605439
5 AICDA NM_020661.3(AICDA): c.238T> C (p.Trp80Arg) single nucleotide variant Pathogenic rs104894320 GRCh37 Chromosome 12, 8758000: 8758000
6 AICDA NM_020661.3(AICDA): c.238T> C (p.Trp80Arg) single nucleotide variant Pathogenic rs104894320 GRCh38 Chromosome 12, 8605404: 8605404
7 AICDA NM_020661.3(AICDA): c.317T> C (p.Leu106Pro) single nucleotide variant Pathogenic rs104894321 GRCh37 Chromosome 12, 8757921: 8757921
8 AICDA NM_020661.3(AICDA): c.317T> C (p.Leu106Pro) single nucleotide variant Pathogenic rs104894321 GRCh38 Chromosome 12, 8605325: 8605325
9 AICDA NM_020661.3(AICDA): c.415A> G (p.Met139Val) single nucleotide variant Pathogenic rs104894322 GRCh37 Chromosome 12, 8757823: 8757823
10 AICDA NM_020661.3(AICDA): c.415A> G (p.Met139Val) single nucleotide variant Pathogenic rs104894322 GRCh38 Chromosome 12, 8605227: 8605227
11 AICDA NM_020661.3(AICDA): c.441C> A (p.Cys147Ter) single nucleotide variant Pathogenic rs104894323 GRCh37 Chromosome 12, 8757505: 8757505
12 AICDA NM_020661.3(AICDA): c.441C> A (p.Cys147Ter) single nucleotide variant Pathogenic rs104894323 GRCh38 Chromosome 12, 8604909: 8604909
13 AICDA NM_020661.3(AICDA): c.452T> C (p.Phe151Ser) single nucleotide variant Pathogenic rs104894327 GRCh37 Chromosome 12, 8757494: 8757494
14 AICDA NM_020661.3(AICDA): c.452T> C (p.Phe151Ser) single nucleotide variant Pathogenic rs104894327 GRCh38 Chromosome 12, 8604898: 8604898
15 AICDA NM_020661.3(AICDA): c.21_39del19 (p.Arg8Asnfs) deletion Pathogenic rs387906328 GRCh37 Chromosome 12, 8759578: 8759596
16 AICDA NM_020661.3(AICDA): c.21_39del19 (p.Arg8Asnfs) deletion Pathogenic rs387906328 GRCh38 Chromosome 12, 8606982: 8607000
17 AICDA NM_020661.3(AICDA): c.176_184delTGCTCTTCC (p.Leu59_Leu62delinsPhe) deletion Pathogenic rs387906329 GRCh37 Chromosome 12, 8758054: 8758062
18 AICDA NM_020661.3(AICDA): c.176_184delTGCTCTTCC (p.Leu59_Leu62delinsPhe) deletion Pathogenic rs387906329 GRCh38 Chromosome 12, 8605458: 8605466
19 AICDA NM_020661.3(AICDA): c.251G> A (p.Trp84Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922703 GRCh37 Chromosome 12, 8757987: 8757987
20 AICDA NM_020661.3(AICDA): c.251G> A (p.Trp84Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922703 GRCh38 Chromosome 12, 8605391: 8605391
21 AICDA NM_020661.3(AICDA): c.374G> A (p.Gly125Glu) single nucleotide variant Likely pathogenic rs193922704 GRCh37 Chromosome 12, 8757864: 8757864
22 AICDA NM_020661.3(AICDA): c.374G> A (p.Gly125Glu) single nucleotide variant Likely pathogenic rs193922704 GRCh38 Chromosome 12, 8605268: 8605268
23 AICDA NM_020661.3(AICDA): c.465C> T (p.His155=) single nucleotide variant Benign rs2028373 GRCh37 Chromosome 12, 8757481: 8757481
24 AICDA NM_020661.3(AICDA): c.465C> T (p.His155=) single nucleotide variant Benign rs2028373 GRCh38 Chromosome 12, 8604885: 8604885
25 AICDA NM_020661.3(AICDA): c.156+16G> A single nucleotide variant Benign rs2518144 GRCh37 Chromosome 12, 8759445: 8759445
26 AICDA NM_020661.3(AICDA): c.156+16G> A single nucleotide variant Benign rs2518144 GRCh38 Chromosome 12, 8606849: 8606849
27 AICDA NM_020661.3(AICDA): c.48A> G (p.Lys16=) single nucleotide variant Conflicting interpretations of pathogenicity rs186739900 GRCh37 Chromosome 12, 8759569: 8759569
28 AICDA NM_020661.3(AICDA): c.48A> G (p.Lys16=) single nucleotide variant Conflicting interpretations of pathogenicity rs186739900 GRCh38 Chromosome 12, 8606973: 8606973
29 AICDA NM_020661.3(AICDA): c.427+4C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201180477 GRCh38 Chromosome 12, 8605211: 8605211
30 AICDA NM_020661.3(AICDA): c.427+4C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201180477 GRCh37 Chromosome 12, 8757807: 8757807
31 AICDA NM_020661.3(AICDA): c.267C> T (p.Asp89=) single nucleotide variant Benign rs74334270 GRCh38 Chromosome 12, 8605375: 8605375
32 AICDA NM_020661.3(AICDA): c.267C> T (p.Asp89=) single nucleotide variant Benign rs74334270 GRCh37 Chromosome 12, 8757971: 8757971
33 AICDA NM_020661.3(AICDA): c.379C> A (p.Arg127=) single nucleotide variant Likely benign rs141451637 GRCh38 Chromosome 12, 8605263: 8605263
34 AICDA NM_020661.3(AICDA): c.379C> A (p.Arg127=) single nucleotide variant Likely benign rs141451637 GRCh37 Chromosome 12, 8757859: 8757859
35 AICDA NM_020661.3(AICDA): c.284C> T (p.Ala95Val) single nucleotide variant Uncertain significance rs780274954 GRCh38 Chromosome 12, 8605358: 8605358
36 AICDA NM_020661.3(AICDA): c.284C> T (p.Ala95Val) single nucleotide variant Uncertain significance rs780274954 GRCh37 Chromosome 12, 8757954: 8757954
37 AICDA NM_020661.3(AICDA): c.585T> C (p.Thr195=) single nucleotide variant Benign rs78590060 GRCh37 Chromosome 12, 8756892: 8756892
38 AICDA NM_020661.3(AICDA): c.585T> C (p.Thr195=) single nucleotide variant Benign rs78590060 GRCh38 Chromosome 12, 8604296: 8604296
39 AICDA NM_020661.3(AICDA): c.322A> C (p.Ile108Leu) single nucleotide variant Uncertain significance rs368645130 GRCh38 Chromosome 12, 8605320: 8605320
40 AICDA NM_020661.3(AICDA): c.322A> C (p.Ile108Leu) single nucleotide variant Uncertain significance rs368645130 GRCh37 Chromosome 12, 8757916: 8757916
41 AICDA NM_020661.3(AICDA): c.74G> A (p.Arg25His) single nucleotide variant Benign rs61730095 GRCh38 Chromosome 12, 8606947: 8606947
42 AICDA NM_020661.3(AICDA): c.74G> A (p.Arg25His) single nucleotide variant Benign rs61730095 GRCh37 Chromosome 12, 8759543: 8759543

Expression for Immunodeficiency with Hyper-Igm, Type 2

Search GEO for disease gene expression data for Immunodeficiency with Hyper-Igm, Type 2.

Pathways for Immunodeficiency with Hyper-Igm, Type 2

Pathways related to Immunodeficiency with Hyper-Igm, Type 2 according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.07 CD2 CD40 CD40LG CXCL9 IKBKG TNFSF13B
2
Show member pathways
12.61 AICDA CD40 CD40LG CXCL9 ICOSLG IKBKG
3
Show member pathways
12.27 CD40 CD40LG IKBKG TNFSF13B
4
Show member pathways
12.19 CD40 CD40LG ICOSLG IKBKG
5 12.07 AICDA BCL6 CD2 CD276 CD40LG CD79A
6 11.81 CD2 CD276 CD40 CD40LG ICOSLG
7 11.68 CD40 CD40LG IKBKG TNFSF13B
8
Show member pathways
11.53 CD40 CD40LG IKBKG TNFSF13B
9 11.45 AICDA BCL6 CD40LG
10 11.36 BCL6 CD40 CD40LG
11 11.32 CD2 CD276 CD40 CD40LG ICOSLG
12 10.67 AICDA CD40 CD40LG CD79A IKBKG UNG
13 10.45 CD40 IKBKG

GO Terms for Immunodeficiency with Hyper-Igm, Type 2

Cellular components related to Immunodeficiency with Hyper-Igm, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.23 CD2 CD276 CD40 CD40LG CD79A CXCL9

Biological processes related to Immunodeficiency with Hyper-Igm, Type 2 according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.98 BCL6 CD40 CD40LG CXCL9 IKBKG
2 immune system process GO:0002376 9.97 APOBEC3G BCL6 CD40 CD79A ICOSLG TNFSF13B
3 regulation of cell proliferation GO:0042127 9.92 APOBEC1 BCL6 CD40 CXCL9
4 immune response GO:0006955 9.91 CD276 CD40 CD40LG CXCL9 IKBKG TNFSF13B
5 T cell receptor signaling pathway GO:0050852 9.88 CD276 ICOSLG IKBKG MOG
6 tumor necrosis factor-mediated signaling pathway GO:0033209 9.81 CD40 CD40LG TNFSF13B
7 T cell costimulation GO:0031295 9.79 CD40LG ICOSLG TNFSF13B
8 positive regulation of T cell proliferation GO:0042102 9.77 CD276 CD40LG TNFSF13B
9 regulation of cytokine production GO:0001817 9.74 CD276 ICOSLG MOG
10 T cell activation GO:0042110 9.72 CD2 CD276 ICOSLG
11 defense response to virus GO:0051607 9.72 AICDA APOBEC1 APOBEC3G CD40 CXCL9
12 positive regulation of B cell proliferation GO:0030890 9.7 BCL6 CD40 TNFSF13B
13 B cell differentiation GO:0030183 9.67 AICDA BCL6 CD40LG CD79A
14 B cell proliferation GO:0042100 9.65 CD40 CD40LG CD79A
15 positive regulation of endothelial cell apoptotic process GO:2000353 9.64 CD40 CD40LG
16 negative regulation of transposition GO:0010529 9.63 AICDA APOBEC3G
17 somatic hypermutation of immunoglobulin genes GO:0016446 9.63 AICDA UNG
18 B cell activation GO:0042113 9.63 CD40 CD79A ICOSLG
19 isotype switching GO:0045190 9.62 AICDA CD40LG
20 negative regulation of single stranded viral RNA replication via double stranded DNA intermediate GO:0045869 9.61 AICDA APOBEC3G
21 positive regulation of isotype switching GO:0045830 9.6 TP53BP1 UNG
22 DNA demethylation GO:0080111 9.58 AICDA APOBEC1 APOBEC3G
23 regulation of immunoglobulin secretion GO:0051023 9.56 CD40 CD40LG
24 immunoglobulin secretion GO:0048305 9.54 CD40LG TNFSF13B
25 negative regulation of methylation-dependent chromatin silencing GO:0090310 9.51 AICDA APOBEC1
26 regulation of immune response GO:0050776 9.5 BCL6 CD276 CD40 CD40LG ICOSLG MOG
27 cytidine to uridine editing GO:0016554 9.43 AICDA APOBEC1 APOBEC3G
28 DNA cytosine deamination GO:0070383 9.33 AICDA APOBEC1 APOBEC3G
29 cytidine deamination GO:0009972 8.92 AICDA APOBEC1 APOBEC3G CDA

Molecular functions related to Immunodeficiency with Hyper-Igm, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.67 AICDA APOBEC1 APOBEC3G CDA
2 signaling receptor binding GO:0005102 9.65 CD2 CD276 ICOSLG MOG TNFSF13B
3 deoxycytidine deaminase activity GO:0047844 9.32 AICDA APOBEC3G
4 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines GO:0016814 9.13 AICDA APOBEC1 APOBEC3G
5 cytidine deaminase activity GO:0004126 8.92 AICDA APOBEC1 APOBEC3G CDA
6 protein binding GO:0005515 10.09 AICDA APOBEC1 APOBEC3G BCL6 CD2 CD276

Sources for Immunodeficiency with Hyper-Igm, Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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